Inflammatory and Cardiovascular Biomarkers to Monitor Fabry Disease Progression

Area of Science:

• Biochemistry
• Genetics
• Immunology

Background:

• Fabry disease (FD) is a multisystemic disorder caused by deficient α-Galactosidase activity, leading to lipid accumulation.
• Accumulated substrates trigger inflammation and endothelial dysfunction, impacting disease progression.
• The impact of enzyme replacement therapy (ERT) on the pro-inflammatory state in FD remains understudied.

Purpose of the Study:

• To assess plasma cytokines and cardiovascular risk proteins in FD patients, both treated and untreated with ERT.
• To evaluate the reliability of these proteins in monitoring FD disease stage and ERT effects.
• To identify a panel of molecules with prognostic value for FD diagnosis and treatment evaluation.

Main Methods:

• Plasma samples from FD patients (treated and untreated with ERT) were analyzed.
• Levels of specific inflammatory and endothelial dysfunction markers were quantified.
• Longitudinal assessment of protein levels was performed to track disease progression and treatment response.

Main Results:

• FD patients exhibit increased levels of inflammatory and endothelial dysfunction markers, including ADAMTS-13, TNF-α, GDF-15, MIP-1β, VEGFA, MPO, and MIC-1.
• These markers appear to be interconnected within a common pathway.
• Longitudinal analysis indicated that these proteins can help assess FD severity and ERT efficacy.

Conclusions:

• While not specific biomarkers for FD, a combination of analyzed proteins can serve as a signature for prognostic value.
• These molecules aid in early diagnosis, disease progression assessment, and monitoring treatment efficacy in FD.
• Blood-based analysis of these proteins offers a valuable approach for managing FD patients.